Variants with conflicting interpretations "uncertain significance" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "pathogenic" from any submitter

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:		Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
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Show significances as they were submitted (without aggregation into standard terms)
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Total variants with conflicting interpretations: 14

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	rs199473603	0.00021
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)	rs191391414	0.00010
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)	rs367579275	0.00006
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)	rs121909133	0.00004
NM_145691.4(ATPAF2):c.133+1G>T	rs147941728	0.00004
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)	rs769648248
NM_000548.5(TSC2):c.1362-10C>A	rs45446697
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)	rs1984257387
NM_006772.3(SYNGAP1):c.3583-6G>A	rs869312674
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)	rs869312709
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)	rs1135402740
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)	rs1554612377
NM_183065.4(TMEM107):c.*745C>G	rs746503581

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